Cerebral palsy (CP) is a clinical term used to describe a spectrum of movement and posture disorders resulting from non-progressive disturbances in the developing fetal brain. The clinical diagnosis of CP does not include pathological or aetiological defining features, therefore both genetic and environmental causal pathways are encompassed under the CP diagnostic umbrella. In this review, we explore several genetic causal pathways, including both monogenic and polygenic risks, and present evidence supporting the multifactorial contributions to CP. Historically, CP has been associated with various risk factors such as pre-term birth, multiple gestation, intrauterine growth restriction (IUGR), maternal infection, and perinatal asphyxia. Thus, we also examine genetic predispositions that may contribute to these risk factors. Understanding the specific aetiology of CP enables more tailored treatments, especially with the increasing potential for early genetic testing.
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http://dx.doi.org/10.1016/j.siny.2024.101551 | DOI Listing |
Sci Rep
December 2024
Department of Neurosurgery, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, No.1678, Dongfang Road, Pudong District, Shanghai, China.
This study investigated the prevalence and severity of lower urinary tract symptoms (LUTS) in children with spastic cerebral palsy (SCP) and evaluated the effect of selective dorsal rhizotomy (SDR) in alleviating these symptoms. The study also explored the correlation between postoperative LUTS improvement and intraoperative electrophysiological findings. Prospective data were collected from a consecutive cohort of 247 children with SCP who underwent SDR and were retrospectively analyzed.
View Article and Find Full Text PDFAnn Rehabil Med
December 2024
Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Cerebral palsy (CP) is the most common motor disability in children, characterized by diverse clinical manifestations and often uncertain etiology, which has spurred increasing interest in genetic diagnostics. This review synthesizes findings from various studies to enhance understanding of CP's genetic underpinnings. The discussion is structured around five key areas: monogenic causes and copy number variants directly linked to CP, differential genetic disorders including atypical CP and mimics, ambiguous genetic influences, co-occurrence with other neurodevelopmental disorders, and polygenic risk factors.
View Article and Find Full Text PDFJ Integr Neurosci
December 2024
Cerebral Palsy Center in Neurosurgery, Second Affiliated Hospital of Xinjiang Medical University, 830063 Urumqi, Xinjiang, China.
Cerebral palsy (CP), a common neurological disorder in children, remains a significant research focus. The interleukin (IL) family, pivotal mediators in inflammatory responses, shows increased expression in various neuroinflammatory diseases, markedly influencing their onset and progression. Elevated IL levels in the brains of children with CP, in contrast to healthy peers, reflect similar elevations in neurological conditions linked to CP, indicating a strong association between CP and the IL family.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
View Article and Find Full Text PDFTurk J Med Sci
December 2024
Cerebral Palsy and Pediatric Rehabilitation Unit, Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkiye.
Background/aim: Functional asymmetry in the upper extremities may occur in infants with neuromotor problems due to neurodevelopmental or musculoskeletal disorders. The aim of this study was to investigate the validity and reliability of the Turkish version of the Infant Motor Activity Log (IMAL-T), which assesses the frequency (how often) and quality (how well) of the affected arm usage during activities in infants with functional asymmetry in the upper extremities.
Materials And Methods: The IMAL-T was administered face-to-face to the parents of 102 infants [60 infants at high risk of developing cerebral palsy (CP) and 42 infants with brachial plexus birth injury (BPBI)], aged 6-24 months, with functional asymmetry in the upper extremities.
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